Canonical Allele Identifier: CA375776935

Gene: EHMT1

Linked Data

• gnomAD v4: 9-137776816-G-C
• MyVariant Identifiers: chr9:g.140671268G>C (hg19) ; chr9:g.137776816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776816G>C , CM000671.2:g.137776816G>C	GRCh38
NC_000009.11:g.140671268G>C , CM000671.1:g.140671268G>C	GRCh37
NC_000009.10:g.139791089G>C	NCBI36
NG_011776.1:g.162825G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460843.6:c.1990G>C MANE Select	ENSP00000417980.1:p.Glu664Gln
ENST00000636027.1:c.1876G>C	ENSP00000489961.1:p.Glu626Gln
ENST00000637161.1:c.1897G>C	ENSP00000490328.1:p.Glu633Gln
ENST00000637261.1:c.2030G>C	ENSP00000490815.1:n.2030G>C
ENST00000638071.1:c.1617G>C
ENST00000640639.1:c.1159G>C	ENSP00000491823.1:p.Glu387Gln
ENST00000371394.6:c.*1725G>C	ENSP00000485945.1:n.*1725G>C
ENST00000460843.5:c.1990G>C	ENSP00000417980.1:p.Glu664Gln
ENST00000462484.5:c.1990G>C	ENSP00000417328.1:p.Glu664Gln
ENST00000462942.3:c.847G>C	ENSP00000436107.1:p.Glu283Gln
ENST00000626603.1:n.1633C>G
NM_001145527.1:c.1990G>C	NP_001138999.1:p.Glu664Gln
NM_024757.4:c.1990G>C	NP_079033.4:p.Glu664Gln
XM_005266105.3:c.1981G>C	XP_005266162.1:p.Glu661Gln
XM_005266110.1:c.1897G>C	XP_005266167.1:p.Glu633Gln
XM_006717288.2:c.1972G>C	XP_006717351.1:p.Glu658Gln
XM_011519021.1:c.1999G>C	XP_011517323.1:p.Glu667Gln
XM_011519022.1:c.1996G>C	XP_011517324.1:p.Glu666Gln
XM_011519023.1:c.1978G>C	XP_011517325.1:p.Glu660Gln
XM_011519024.1:c.1921G>C	XP_011517326.1:p.Glu641Gln
XM_011519025.1:c.1897G>C	XP_011517327.1:p.Glu633Gln
XM_011519026.1:c.1855G>C	XP_011517328.1:p.Glu619Gln
XM_011519027.1:c.1999G>C	XP_011517329.1:p.Glu667Gln
XM_011519028.1:c.1999G>C	XP_011517330.1:p.Glu667Gln
XM_011519029.1:c.421G>C	XP_011517331.1:p.Glu141Gln
XM_011519033.1:c.1834G>C	XP_011517335.1:p.Glu612Gln
NM_001354259.1:c.1897G>C	NP_001341188.1:p.Glu633Gln
NM_001354263.1:c.1969G>C	NP_001341192.1:p.Glu657Gln
XM_005266105.5:c.1981G>C	XP_005266162.1:p.Glu661Gln
XM_011519021.3:c.1999G>C	XP_011517323.1:p.Glu667Gln
XM_011519022.3:c.1996G>C	XP_011517324.1:p.Glu666Gln
XM_011519023.3:c.1978G>C	XP_011517325.1:p.Glu660Gln
XM_011519029.3:c.421G>C	XP_011517331.1:p.Glu141Gln
XM_017015134.1:c.1975G>C	XP_016870623.1:p.Glu659Gln
XM_017015136.2:c.1891G>C	XP_016870625.1:p.Glu631Gln
XM_017015137.1:c.1876G>C	XP_016870626.1:p.Glu626Gln
XM_017015138.1:c.1876G>C	XP_016870627.1:p.Glu626Gln
XM_024447674.1:c.1819G>C	XP_024303442.1:p.Glu607Gln
XM_024447675.1:c.1753G>C	XP_024303443.1:p.Glu585Gln
XM_024447676.1:c.1114G>C	XP_024303444.1:p.Glu372Gln
XM_024447677.1:c.1114G>C	XP_024303445.1:p.Glu372Gln
XM_024447678.1:c.1897G>C	XP_024303446.1:p.Glu633Gln
XM_024447679.1:c.1897G>C	XP_024303447.1:p.Glu633Gln
XM_024447680.1:c.1732G>C	XP_024303448.1:p.Glu578Gln
NM_024757.5:c.1990G>C MANE Select	NP_079033.4:p.Glu664Gln
NM_001145527.2:c.1990G>C	NP_001138999.1:p.Glu664Gln
NM_001354259.2:c.1897G>C	NP_001341188.1:p.Glu633Gln
NM_001354263.2:c.1969G>C	NP_001341192.1:p.Glu657Gln